Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases. Disease data Classification Disease Synonyms Bellini syndrome Niepełnosprawność intelektualna - niski wzrost - klinowate nasady kości kolan Zespół Belliniego Intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome ORPHA code 1240 OMIM code 250215 ICD10 code Q78.5 ICD11 code LD24.7 *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl